Variant report

Variant	rs2678077
Chromosome Location	chr5:118798028-118798029
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:118791802..118794472-chr5:118795539..118798491,4	K562	blood:

Variant related genes	Relation type
ENSG00000133835	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1143650	0.86[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2431545	0.82[AFR][1000 genomes]
rs2546206	0.93[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2546207	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2546208	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2546209	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2546212	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2560719	0.93[YRI][hapmap];1.00[AMR][1000 genomes]
rs2560720	1.00[AMR][1000 genomes]
rs2560721	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2560722	0.83[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2560724	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2636960	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2636965	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2636967	0.85[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2636970	0.85[YRI][hapmap];1.00[AMR][1000 genomes]
rs2636972	1.00[EUR][1000 genomes]
rs2652698	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2678068	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2678069	0.86[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2678072	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2678073	1.00[AMR][1000 genomes]
rs2678075	0.86[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2678082	1.00[AMR][1000 genomes]
rs2678083	0.85[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2678093	0.86[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34053410	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35121430	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73246563	1.00[EUR][1000 genomes]
rs73246567	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030717	chr5:118709310-118836951	Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv427732	chr5:118730999-119034741	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv1024455	chr5:118770429-119487982	Strong transcription Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118789000-118805000	Weak transcription	Esophagus	oesophagus
2	chr5:118789000-118805400	Weak transcription	Ovary	ovary
3	chr5:118789000-118805400	Weak transcription	Spleen	Spleen
4	chr5:118789000-118811800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr5:118789000-118813200	Weak transcription	Fetal Muscle Trunk	muscle
6	chr5:118789000-118826800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr5:118789200-118803800	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr5:118789200-118803800	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr5:118789200-118805000	Weak transcription	Thymus	Thymus
10	chr5:118789200-118805400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr5:118789200-118805600	Weak transcription	Gastric	stomach
12	chr5:118789200-118813200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr5:118789400-118800600	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr5:118789400-118803800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr5:118789400-118805200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr5:118789400-118831200	Weak transcription	NH-A	brain
17	chr5:118789400-118831600	Weak transcription	HSMMtube	muscle
18	chr5:118789600-118798400	Weak transcription	Adipose Nuclei	Adipose
19	chr5:118789600-118802800	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr5:118789600-118804000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr5:118789600-118810600	Weak transcription	Osteobl	bone
22	chr5:118789600-118812000	Weak transcription	A549	lung
23	chr5:118789600-118813400	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr5:118789600-118813600	Weak transcription	Stomach Smooth Muscle	stomach
25	chr5:118789800-118798800	Weak transcription	NHDF-Ad	bronchial
26	chr5:118789800-118799000	Weak transcription	HMEC	breast
27	chr5:118789800-118803000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr5:118789800-118804000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr5:118789800-118805000	Weak transcription	Fetal Stomach	stomach
30	chr5:118789800-118805200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr5:118789800-118811000	Weak transcription	Brain Angular Gyrus	brain
32	chr5:118789800-118813800	Weak transcription	Fetal Kidney	kidney
33	chr5:118789800-118814400	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr5:118790000-118804000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr5:118790000-118804200	Weak transcription	Rectal Smooth Muscle	rectum
36	chr5:118790000-118812600	Weak transcription	Fetal Brain Male	brain
37	chr5:118790200-118813400	Weak transcription	Aorta	Aorta
38	chr5:118790400-118801000	Weak transcription	Lung	lung
39	chr5:118791800-118800800	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr5:118791800-118846600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr5:118792400-118815000	Weak transcription	K562	blood
42	chr5:118793200-118799400	Weak transcription	Primary B cells from peripheral blood	blood
43	chr5:118793200-118801000	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr5:118793400-118799800	Weak transcription	Fetal Intestine Large	intestine
45	chr5:118793400-118800800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr5:118793400-118802400	Weak transcription	Brain Hippocampus Middle	brain
47	chr5:118793400-118802800	Weak transcription	Primary T cells from cord blood	blood
48	chr5:118793400-118802800	Weak transcription	Fetal Lung	lung
49	chr5:118793400-118803800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr5:118793400-118804200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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